Gene Symbol: chorea acanthocytosis
Description: vacuolar protein sorting 13 homolog A (S. cerevisiae)
Alias: CHAC, CHOREIN, chorea-acanthocytosis protein, vacuolar protein sorting 13A, vacuolar protein sorting-associated protein 13A
- Globus pallidus interna deep brain stimulation improves chorea and functional status in a patient with chorea-acanthocytosisHyeeun Shin
Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
Stereotact Funct Neurosurg 90:273-7. 2012We report a 39-year-old woman with chorea-acanthocytosis (ChAc) who was referred with refractory hyperkinetic movement and truncal bending spasm...
- Genetic diagnosis of neuroacanthocytosis disorders using exome sequencingRuth H Walker
Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
Mov Disord 27:539-43. 2012..These studies may provide a better understanding of the function of the associated proteins and provide insight into the pathogenesis of these disorders...
- Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosisMichael Foller
Department of Physiology, Universitat Tubingen, Tubingen, Germany
FASEB J 26:1526-34. 2012..by loss-of-function mutations of the gene encoding vacuolar protein sorting-associated protein 13A (VPS13A) or chorein, a protein with unknown function expressed in various cell types...
- Additional role of O-acetylserine as a sulfur status-independent regulator during plant growthHans Michael Hubberten
Max Planck Institut fur Molekulare Pflanzenphysiologie, Am Muhlenberg 1, Potsdam Golm, Germany
Plant J 70:666-77. 2012..1, sulfur-deficiency-induced 2, low-sulfur-induced 1, serine hydroxymethyltransferase 7 and ChaC-like protein)...
- Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosisLucia De Franceschi
Department of Medicine, University of Verona, Verona, Italy
PLoS ONE 7:e31015. 2012..disorders, namely McLeod syndrome (MLS, XK-related, Xk protein) and chorea-acanthocytosis (ChAc, VPS13A-related, chorein protein)...
- Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cellsTakehiro Hayashi
Department of Biochemistry and Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan
Biochem Biophys Res Commun 419:511-6. 2012..disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene encoding chorein. Although a deficiency in chorein function leads to apoptosis of striatal neurons in ChAc model mouse, its ..
- The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytesNatlada Kanjanasut
Chulalongkorn Comprehensive Movement Disorders Center, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand
Clin Neurol Neurosurg 112:541-3. 2010..Among those, chorea-acanthocytosis (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked dysarthria and ..
- [Adult-onset case of idiopathic neurodegeneration with brain iron accumulation without mutations in the PANK2 and PLA2G6 genes]Shinji Saiki
Department of Neurology, Juntendo University School of Medicine
Rinsho Shinkeigaku 49:474-8. 2009..Kell antigen expressions of the red blood cells were within normal limit. Western blot analysis with anti-chorein antibody detected normal chorein expression levels of the red blood cells...
- Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyondChristine Klein
Department of Neurology, University of Lubeck, Lubeck, Germany
Mov Disord 24:2042-58. 2009..Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions.
- [Chorea-acanthocytosis without acanthocytes]C Bayreuther
Service de Neurologie, Hopital Pasteur, CHU de Nice, 30, Voie Romaine, 06002 Nice, France
Rev Neurol (Paris) 166:100-3. 2010Chorea-acanthocytosis (ChAc) is one of the neuroacanthocytosis syndromes which form a group of disorders characterized by the association of neurological abnormalities and spiculated red blood cells called acanthocytes...
- Neuroacanthocytosis: a rare inherited movement disorderI Looi
Department of Medicine, Penang Hospital, Kuala Lumpur
Med J Malaysia 63:157-8. 2008The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease...
- Chorea-acanthocytosis: report of two Brazilian casesGuilherme Riccioppo Rodrigues
Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil
Mov Disord 23:2090-3. 2008..This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay...
- Automatic striatal volumetry allows for identification of patients with chorea-acanthocytosis at single subject levelHans Jurgen Huppertz
Swiss Epilepsy Center, Bleulerstrasse 60, 8008, Zurich, Switzerland
J Neural Transm 115:1393-400. 2008Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease with erythrocyte membrane dysfunction, progressive hyperkinesia, and neuropsychological abnormalities...
- Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophreniaHirochika Shimo
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
Neurosci Res 69:196-202. 2011Neuroacanthocytosis syndromes are mainly comprised of two diseases: chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS)...
- Bilateral temporal lobe epilepsy confirmed with intracranial EEG in chorea-acanthocytosisBenedikt Bader
Neurologische Klinik und Poliklinik, Ludwig Maximilians Universitat, Marchioninistr 15, 81377 Munchen, Germany
Seizure 20:340-2. 2011Chorea-acanthocytosis (ChAc) is an uncommon basal ganglia disorder, in which the movement disorder element may be obscured by the predominance of seizures...
- Shape alterations in the striatum in chorea-acanthocytosisMark Walterfang
Neuropsychiatry Unit, Royal Melbourne Hospital 3050, Australia
Psychiatry Res 192:29-36. 2011..uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome...
- Chorea-acanthocytosis presenting as motor neuron diseaseDulce Neutel
Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Avenida Professor Egas Moniz, 1648 028 Lisboa, Portugal
Muscle Nerve 45:293-5. 2012Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy.
- Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patientsMariarosa A B Melone
Department of Neurological Sciences, Second University of Naples School of Medicine, Policlinico Universitario Federico II, Italy
J Neuropathol Exp Neurol 61:841-8. 2002Chorea-Acanthocytosis (CHAC) is an autosomal recessive disease characterized by neurodegeneration and acanthocytosis. Enhanced creatine kinase concentration is a constant feature of the condition. The mechanism underlying CHAC is unknown...
- Neuroacanthocytosis syndromesHans H Jung
Department of Neurology, University Hospital Zurich, Zurich, Switzerland
Orphanet J Rare Dis 6:68. 2011..Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients...
- Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindredAntonio Velayos-Baeza
The Wellcome Trust Centre for Human Genetics, Oxford, England
Arch Neurol 68:1330-3. 2011..The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion...
- Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activityLucia De Franceschi
Department of Medicine, University of Verona, Piazzale Lo Scuro 10, Verona, Italy
Blood 118:5652-63. 2011Acanthocytic RBCs are a peculiar diagnostic feature of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder...
- Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotypeGuilherme Riccioppo Rodrigues
Department of Neuroscience and Behaviour Sciences, Ribeirao Preto School of Medicine, University of Sao Paulo, Brazil
Arq Neuropsiquiatr 69:419-23. 2011..ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype...
- Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instabilityChang Hyeok An
Department of General Surgery, College of Medicine, The Catholic University of Korea, Seoul, 137 701 Korea
Hum Pathol 43:40-7. 2012....
- Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosisAkiyuki Tomiyasu
Department of Psychiatry, Graduate School of Medical and Dental Sciences, Kagoshima University, Japan
Am J Med Genet B Neuropsychiatr Genet 156:620-31. 2011..caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms...
- A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13AChiho Ishida
Department of Neurology, National Hospital Organization Iou Hospital, ni 73 1, Iwade machi, Kanazawa, 920 0192, Japan
Acta Neuropathol 117:85-94. 2009We report the first autopsy case of genetically confirmed, autosomal-dominant chorea-acanthocytosis (AD-ChAc), showing a heterozygous mutation (G-A) at nucleotide position 8,295 in exon 57 of VPS13A...
- Adolescent obsessive compulsive disorder heralding chorea-acanthocytosisMark Walterfang
Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, Australia
Mov Disord 23:422-5. 2008..obsessive-compulsive disorder as a prelude to the development of a typical picture of chorea-acanthocytosis (ChAc). In each patient, the caudate nucleus showed dramatic atrophy...
- A gene-targeted mouse model for chorea-acanthocytosisYuko Tomemori
Department of Psychiatry, Kagoshima University Graduate School of Medical and Ental Sciences, Kagoshima, Japan
J Neurochem 92:759-66. 2005..Recently, we identified the gene, CHAC, encoding a novel protein, chorein, in which a deletion mutation was found in Japanese families with CHAC...
- Testing for acanthocytosis A prospective reader-blinded study in movement disorder patientsAlexander Storch
Dept of Neurology, University of Ulm, 89081 Ulm, Germany
J Neurol 252:84-90. 2005..the hallmark of the clinical diagnosis of most neuroacanthocytosis syndromes, such as chorea-acanthocytosis (ChAc) and McLeod syndrome...
- Analysis of the human VPS13 gene familyAntonio Velayos-Baeza
Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, OX3 7BN Oxford, UK
Genomics 84:536-49. 2004The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein...
- Chorea-acanthocytosis associated with TourettismShinji Saiki
Department of Neurology, Kanazawa Medical University, Ishikawa, Japan
Mov Disord 19:833-6. 2004We report on a case of Chorea-acanthocytosis (ChAc) in association with Tourettism that consisted of motor and vocal tics, attention deficit-hyperactivity disorder, and obsessive-compulsive disorder in addition to the typical symptoms of ..
- Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsulaSaeed Bohlega
King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Mov Disord 18:403-7. 2003..Although the clinical presentation was variable, the genetic studies on these three Saudi Arabian families with chorea-acanthocytosis provide strong evidence for a genetic locus for chorea-acanthocytosis at chromosome 9q21...
- [Progress in molecular chorea diagnosis. McLeod syndrome and chorea acanthocytosis]A Danek
Neurologische Klinik, Ludwig Maximilians Universitat, Postfach 701260, 81366 München
Nervenarzt 73:564-9. 2002..their molecular bases, mutations of the X-linked gene XK and autosomal recessive mutations of the gene coding for chorein, respectively, the two phenotypes can now be differentiated and extend the diagnostic spectrum in patients ..
- McLeod neuroacanthocytosis: genotype and phenotypeA Danek
Neurologische Klinik, Ludwig Maximilians Universitat, Munchen, Germany
Ann Neurol 50:755-64. 2001..disease and with autosomal recessive chorea-acanthocytosis suggests that the corresponding proteins--XK, huntingtin, and chorein--might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia.
- The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosisS Ueno
Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan
Nat Genet 28:121-2. 2001..and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a ..
- A conserved sorting-associated protein is mutant in chorea-acanthocytosisL Rampoldi
The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom
Nat Genet 28:119-20. 2001Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis)...
- Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC)J P Rubio
The Wellcome Trust Centre for Human Genetics, Windmill Road, Headington, OX3 7BN, England
Genomics 57:84-93. 1999Chorea-acanthocytosis (CHAC) (OMIM 200150) is a rare neurological syndrome characterized by neurodegeneration in combination with morphologically abnormal red cells (acanthocytosis)...
- Neuroacanthocytosis: new developments in a neglected group of dementing disordersAdrian Danek
Neurologische Klinik und Poliklinik, Ludwig Maximilians Universität Marchioninistr 15 D 81366 Munich, Germany
J Neurol Sci 229:171-86. 2005..The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS)...
- Early clinical heterogeneity in choreoacanthocytosisAlexander Lossos
Department of Neurology, Hadassah Hebrew Unviersity Hospital, Jerusalem, Israel
Arch Neurol 62:611-4. 2005Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene.
- Eye movements in chorea-acanthocytosisLibe Gradstein
Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Invest Ophthalmol Vis Sci 46:1979-87. 2005To describe the eye movement abnormalities in patients with chorea-acanthocytosis (ChAc), a form of neuroacanthocytosis...
- Choreoacanthocytosis in a Mexican familyJosé L Ruiz-Sandoval
Department of Neurology and Neurosurgery, Hospital Civil de Guadalajara Fray Antonio Alcalde, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
Arch Neurol 64:1661-4. 2007Choreoacanthocytosis (CHAC) (Online Mendelian Inheritance in Man accession No...
- Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigreeMio Ichiba
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima University, Japan
J Neurol Sci 263:124-32. 2007Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene...
- Primary skeletal muscle involvement in chorea-acanthocytosisShinji Saiki
Department of Neurology, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Kahoku, Ishikawa 920 0293, Japan
Mov Disord 22:848-52. 2007..Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared ..
- Chorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and (123)I-beta-CIT-SPECTKirsten R Müller-Vahl
Department of Clinical Psychiatry and Psychotherapy, Medical School Hannover, Carl Neuberg Str 1, D 30625, Hannover, Germany
J Neurol 254:1081-8. 2007We report on two 33 years old monozygotic twins with chorea-acanthocytosis (ChAc) misdiagnosed as schizophrenia and Tourette syndrome, respectively...
- Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13CEmiko Mizuno
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
Biochem Biophys Res Commun 353:902-7. 2007Mutations in vacuolar protein sorting 13A (VPS13A) gene are responsible for chorea-acanthocytosis (ChAc)...
- In vivo distribution and localization of choreinYutaka Kurano
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
Biochem Biophys Res Commun 353:431-5. 2007..is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. In this study, we produced an antibody against chorein and examined its protein-level expression and ..
- Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptorYutaka Kurano
Department of Psychiatry, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890 8520, Japan
Biochem Biophys Res Commun 351:438-42. 2006..is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. Recently, using a gene-targeting technique to delete exons 60-61, we produced a ChAc-model mouse that ..
- A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesiaMohammad Hossein Harirchian
Department of Neurology, Imam Khomeini Hospital, Iranian Centre of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
Neurol India 54:296-7. 2006Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis...
- Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry studyKarsten Henkel
Department of Neurology, University of Ulm, Ulm, Germany
Mov Disord 21:1728-31. 2006Chorea-acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, ..
- Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosisCarol Dobson-Stone
The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK
Neurogenetics 6:151-8. 2005Mutations in VPS13A cause chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder. VPS13A is located in a tail-to-tail arrangement with GNA14 on chromosome 9q21...
- Chorea-acanthocytosis: genetic linkage to chromosome 9q21J P Rubio
The Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
Am J Hum Genet 61:899-908. 1997Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life...